New Pitt Hopkins Italian Association formed

September 2014 marked an important month for PTHS families around the world, but this time it was even more special in Italy, where some of the almost 25 families with diagnosed children got together and constituted the Pitt Hopkins Syndrome Italian Association, making an official presentation on September 20th, right after the celebration of the 2nd Pitt Hopkins Awareness Day.

The Agostino Gemelli Teaching Hospital hosted the presentation, which counted with wide participation of families coming from all parts of Italy, doctors, friends and students. The Association was introduced by its President Gianluca Vizza, who thanked all families who made it possible as well as doctors and friends who supported and paved the way. Vizza explained about the difficulties faced when they received a positive diagnose for his son Davide, how his wife Tiziana decided that they needed to do something to give their child a better life, and how together with the other families and the support of many friends in the starting process, this Association became a reality.

Presentations by Genetist Zollino, and Butarelli, Rare Disease Association President followed. Two moms coming from different Italian regions, told their stories and struggles: Elena Vattiata from Sicily and Angela Villa from Lombardy. Closing the presentation Claudia Diez de Medina launched the 100 MORE Campaign.

Following the presentation, a lunch meeting for PTHS families was organized, it was the first time that a major part of families in Italy got together, three of them came with their children Carmen (Naples), Alessia (Trapani) and Martina (Rome), who turned to be the best and most patient participants in the event! It was a very emotional moment, giving us the possibility to share experiences, thoughts, doubts and give suggestions aside from what we expect and what we would like to do.

Families agreed that we have a great challenge ahead with the newly born Association, the immediate aim is to create and coordinate a support group for associated families and newcomers, act as a guide to face bureaucracies and protect the rights of our children and support Pitt Hopkins Syndrome research but further discussion on the latter is needed.

Finally, starting early in September the preparation for the presentation of the Association was given major attention by Italian mainstream media including a couple of television networks. Moreover a series of on-line newspaper blogs, associations published and shared the invitation and shared the information. And right after the presentation, a couple of local newspapers interviewed the Zuffogrosso family in Treviso and the Labat Villa family in Bergamo, while in Rome, the Associaction’s President Vizza was interviewed by Sky Italia satellite TV…..we couldn’t do better in raising awareness in Italy…. and this is just the beginning!

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Spirit Week a HUGE success! $136,835 raised!!

Dearest Eastside Eagles,
It already seems like a dream that we were in Greenville celebrating Spirit Week with all of you, in large part because you all seem to good to be true. You are an exceptional group of human beings devoted to doing exceptional things. You understand, fully and completely, that a person is not known for how others treat them, but for how they treat others.

We are so blessed and humbled to have been chosen as the recipient of Spirt Week and we will never be able to thank you enough. Indeed, the words thank you seem insufficient to express the depths of our gratitude, but we will say them anyway— THANK YOU, EASTSIDE. FROM THE BOTTOM OF OUR HEARTS, THANK YOU.

We are still reeling from the amount of money you all raised. I’m smiling ear to ear as I type this and think of that extraordinary sum. This contribution will significantly alter the impact our research can have—at a time when we really needed it. As a baby foundation, we were about to hit our third year slump. A common occurrence; after donors have given two years in a row, they are less likely to give for a third year. But the money you raised has put us at a whole new level, a level that will allow us to continue funding the incredible researchers that have already made such strides in the last two years.

But it was so much more than the money. You not only touched our hearts, you healed them. Nowhere else in the world are our kids treated like rock stars. Nowhere else in the world would a lovely girl ask our kids to the school dance or pay money for a chance to have frozen yogurt with them. Nowhere else in the world would students sing songs to our kids on command or line up to have their photos taken with them. That experience, seeing my son, and all the Pitt Hopkins children being treated with such love, such kindness, gives all of us parents so much hope for a brighter, better future.

I think I speak for all the PTHS families when I say that you all have brought us a sense of peace — a peace we could not have found without you. Of course, as special needs parents, there will be days that are tough, but when they come, we need only remember your faces, your smiles, your hearts, to pull us out of the slump. We need only remember that there is true goodness in this world–the goodness you all showed us.

We hope that you all will do the same. When you are hit with heartache or pain, we want you to remember that you — ALL OF YOU– have the power to create joy, to heal hearts, to change the future. That is a power we all have, but many don’t realize it. You, as students of Eastside should know, as it is the essence of who you are, the very fiber of your community. It is, at it’s core, the very notion of “Strength through Human Understanding.”

Our only regret is that we did not get to spend more time with each and every one of you. But ALL OF YOU you make up the spirit that is Eastside. Parents, teachers, students, you are all in our hearts. I imagine if there had been a Spirit Week at my high school, I would have faded into the background…I was shy and not very confident at that age. So, to you kids who feel like you fade into the background, I want you to know, we saw you, and more importantly, we felt you. Even if you weren’t able to attend the events for financial or other reasons, you were seen, you were heard, you were felt. Because Spirit Week is about is coming together to raise our voices on behalf of those who have no voice.

My wish for you all is that you retain this incredible ability to help those less fortunate, whether it’s a kid with Pitt Hopkins, the child with no money for lunch, or the student being bullied for whatever unworthy reason. If you do, you will continue to change the world for the better.

YOU ARE EAGLES—and you are angels. You carry this power within. Don’t ever forget it.

THANK YOU EASTSIDE. Thank you for all you have done for us. It is a debt we will never be able to repay. But If there is ever anything we can ever do to try, please don’t hesitate to let us know.
On behalf of the board of the Pitt Hopkins Research Foundation and all the families worldwide with Pitt Hopkins children, THANK YOU.

All our love and gratitude,
Audrey Davidow
President, Pitt Hopkins Research Foundation

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PTHS Awareness Day, September 18th

September was such a huge month for our Pitt Hopkins family.  On Sept 18, we celebrated our 2nd Annual Pitt Hopkins Awareness Day (AD).  Our small but mighty group came together to celebrate our Pitt Hopkins community and raise awareness.

This second awareness day was even more successful than the first!  It was amazing to see families spreading the word – from Ireland, Canada, UK, New Zealand to USA to Italy (and many more countries), family raised awareness in many different ways.  During the month and days leading up to awareness day, families chose many ways to be involved.

Over 7 families contacted their legislature and local governments to have Sept 18 declared Pitt Hopkins Awareness Day.  Several shared their stories being featured in newspapers or blogs.  Some families thanked those that have had a profound impact on their child.  There were over 1000 t-shirts ordered across the globe.  Many other families printed their own shirts.  Families shared their PTHS AD t-shirts with their schools, therapists, families and friends who wore them proudly.  Some brave siblings spoke to their schools about their brother or sister with PTHS.  Other families wanted to raise money for research and held “Share a Smile” campaigns at their schools, sold wrist bands, planned walks, comedy night or manned a lemonade stand.  With over 125 beautiful faces on our collage, many people posted the wonderful collages and beautiful profile pictures on Facebook to raise awareness with their friends and families.  And many chose to share one or both of our inspiring awareness videos.  Over 100 families chose to participate in a PTHS Thunderclap or the clap hear round the world on social media.  Others chose to share the 100 More Diagnosed campaign through social media.

In whatever ways you chose to celebrate PTHS Awareness Day – thank you for continuing to raise awareness of Pitt Hopkins Syndrome and our inspiring children.

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Iowa: Stand Up for Pitt Hopkins Comedy Fundraiser

The first ever Stand-Up for Pitt Hopkins comedy event was held September 9, 2014 at the Funny Bone Comedy Club in West Des Moines, Iowa. The event was a huge success, raising $9,500 to be donated to the Pitt Hopkins Research Foundation!

We enjoyed a wonderful evening full of laughs with our family and friends! A huge thank you to comedian/magician Ben Ulin and comedian Willie Farrell for donating their time to make this event so successful. Also, thank you to all of the sponsors who donated so many great items for the silent auction that accompanied the show, including the Funny Bone Comedy club in Des Moines for allowing us to use their facilities!

It was a great night spent with great people for a great cause- Thank you!

 

 

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Fletcher Family: Inspired by Ian’s 2nd Annual Walk raises $9500 for research!

 

Inspired by Ian’s 2nd Annual Walk for Pitt Hopkins held on Saturday, September 6th held was a success! We enjoyed a wonderful day of fun with great people supporting Ian and Pitt Hopkins Research. We enjoyed the day spent with two other Pitt Hopkins families that joined us for the event- Nolen’s family (the Parkin’s from Urbandale, Iowa) and Eli’s family (the Adamson’s from Baldwin City, Kansas)! We feel so blessed to have been able to raise $9,500 for to be donated to the Pitt Hopkins Research Foundation.  A day full of inspiration and hope in Bedford, Iowa!

 

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Adamson family: Confections for Compassion fundraiser

Hosted by Eli Adamson’s family
July 26, 2014
Baldwin City, Kansas.

Our event was a success. We had 35-40 guests. My friends, Lesley and Jessica, 2 other Pitt Hopkins moms, did an awesome job of sharing with the group about how things got started (in 2008 with only 4 families diagnosed). They shared about how the research foundation started in 2012 and that in only 3 years our group of less than 400 families has raised $900,000!!!! AND that of the 6 research teams studying PTHS, one team has been awarded a $1.8M grant from the NIMH…all because we funded their small research projects. It gives great validity to the research. All accomplished through bake sales, t-shirt sales, 5Ks, auctions and events like the one we held which will hopefully be duplicated by other PTHS families. The PTHS families are an amazing group of people, with a ‘can do it, will do it, doing it, did it, doing it again’ spirit.

Our event has raised $1700 so far with more donations coming in!!!

I am so blessed to have such fantastic friends, family and community who are willing to lock arms with my family in a fight for a better future for Eli and the other Pitt Hopkins children.

 

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Nothnagle Realtors raise $12,000 for research in honor of Ella Schilling

 

A friend of mine from high school along with Nothnagle Realtors hosted a fundraiser for PTHS research in Ella’s honor Monday night.  It was a truly overwhelming night for our family as the group raised $12,000 for PTHS research.  Of the over 100 guests that attended we only a knew a select few of them.  Through my friend sharing Ella’s story, stories of the other children and ALL of the work that is being done by some SUPER AWESOME people in our group we managed to make an impact on a lot of people.  So much so that people that didn’t even know us were interested in Ella and Pitt Hopkins Syndrome.  Nothnagle Realtors (http://www.nothnagle.com/) were an amazing generous and caring group of people.  Our family is smiling from ear to ear today. 

 

Here is a message below that was sent from the Company’s President, Armand D’Alfonso regarding the fundraiser.   

Thank you to everyone for your support at Ella’s fundraiser Monday evening. Together, we were able to raise $12,000 for Pitt Hopkins Syndrome Research.  I’m so proud of what we accomplished to help researchers someday find a cure for Ella and other children that have this very rare genetic disorder. 

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Dr. Sweatt and UAB Sweatt Lab receives $1.8 million NIMH grant

July 7, 2014 — Dr. J. David Sweatt, Professor and Chairman of the Department of Neurobiology at the University of Alabama at Birmingham, has received a research grant from the US National Institute of Mental Health (NIMH) to fund a new project to investigate the molecular and neural basis of Pitt-Hopkins Syndrome (PTHS). The grant, which starts July 15, 2014, totals $1,837,500 over 5 years. Dr. Sweatt exclaimed “I want to thank all of the PTHS families who helped with fundraising for the lab over the last several years. Obtaining this new NIMH research grant was only possible because of the help and financial support of the PTHS families and the PTHS Foundation, which provided the seed funds necessary to allow us to submit a very strong proposal based on the pilot data we generated over the last two years.” Sweatt added “ To my knowledge this is the first PTHS research grant to be funded by the US National Institutes of Health, so this is a very exciting development for the PTHS community.”

The newly funded research in the Sweatt laboratory will capitalize on the recent discovery that PTHS is a neurodevelopmental disorder, the underlying genetic basis of which is mutation/deletion of the TCF4 gene. In their study investigators in the Sweatt lab will undertake comprehensive behavioral testing of genetically engineered PTHS model mice (TCF4 heterozygous deficiency mice) focusing on learning and memory, and investigating whether there is altered function in the neurons of PTHS model mice. In addition the Sweatt lab will test whether a specific category of drugs, histone deacetylase (HDAC) inhibitors, might ameliorate any behavioral and neurophysiologic deficits observed in the mice. Scientists in the Sweatt lab who will be working on the project include Dr. Andrew Kennedy, Dr. Elizabeth Rahn, Dr. Cristin Gavin, and Research Technician Mr. John Lewis. The proposed studies will yield valuable information concerning the Intellectual Disabilities aspect of PTHS, and whether HDAC inhibitors might be a candidate treatment for this aspect of PTHS.

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Michigan: Olivia’s 5K & PTHS Playland raises $6,700

Olivia’s 5k and PTHS Playland was held June 21, 2014 in Lincoln Park, Michigan. This wonderful event raised approximately $6,700.  It was a beautiful day filled with great support and love.

This was the 5th year of raising awareness of PTHS in Michigan. Some exciting new details were added to this year’s event:  a kid fun run, sponge challenge, and plunger races,…just to name a few! Lunch and all activities were part of the ticket cost and the lovely DJ Mandy keep everyone rocking throughout the day. In addition to the activity portion of the day, this year shopping from various vendors was offered, face painting, and palm/tarot card readings. A portion of funds from shopping benefited the PTHS research fund as well.

 

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Race for Rylie raises $11,570 for PHRF in PA

On June 21, 2014 the Maginn family held their 5th annual Race for Rylie event, to benefit the Pitt Hopkins Research Foundation.  The Race was held at Nockamixon State Park- Marina bike trail, Quakertown, Pennsylvania. Five Pitt Hopkins families joined together that day!  A total of $11,570 was raised for research to find a treatment for PTHS.

Our mission is to increase awareness and research in the understanding of Pitt Hopkins Syndrome. Race for Rylie is an important annual fundraiser for the Pitt Hopkins Research Foundation. In 2013, we funded $330,000 of research for Pitt Hopkins Syndrome. We were able to raise more money this year for research with our new Pledge Participants option. 

 

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